← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-15703350-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15703350&ref=G&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15703350,
"ref": "G",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "NM_002474.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*641C>A",
"hgvs_p": null,
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*641C>A",
"hgvs_p": null,
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*782C>A",
"hgvs_p": null,
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1945,
"cds_start": -4,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*782C>A",
"hgvs_p": null,
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1945,
"cds_start": -4,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*641C>A",
"hgvs_p": null,
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1979,
"cds_start": -4,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.947+6490G>T",
"hgvs_p": null,
"transcript": "NM_017668.3",
"protein_id": "NP_060138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "ENST00000396354.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000396354.6",
"protein_id": "ENSP00000379642.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": "NM_017668.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000396355.5",
"protein_id": "ENSP00000379643.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*641C>A",
"hgvs_p": null,
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1979,
"cds_start": -4,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*641C>A",
"hgvs_p": null,
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.*782C>A",
"hgvs_p": null,
"transcript": "NM_022844.3",
"protein_id": "NP_074035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1938,
"cds_start": -4,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.1030+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000577101.6",
"protein_id": "ENSP00000461729.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.947+6490G>T",
"hgvs_p": null,
"transcript": "NM_001143979.2",
"protein_id": "NP_001137451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.795+9094G>T",
"hgvs_p": null,
"transcript": "ENST00000674995.1",
"protein_id": "ENSP00000502414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.795+9094G>T",
"hgvs_p": null,
"transcript": "ENST00000572756.6",
"protein_id": "ENSP00000460436.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": -4,
"cds_end": null,
"cds_length": 853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.*6+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000674581.1",
"protein_id": "ENSP00000502100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.*32+3496G>T",
"hgvs_p": null,
"transcript": "ENST00000572967.1",
"protein_id": "ENSP00000459918.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "c.378+3496G>T",
"hgvs_p": null,
"transcript": "ENST00000573694.5",
"protein_id": "ENSP00000459863.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
"cds_end": null,
"cds_length": 410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.795+9094G>T",
"hgvs_p": null,
"transcript": "ENST00000674538.1",
"protein_id": "ENSP00000501547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000674554.1",
"protein_id": "ENSP00000502635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.795+9094G>T",
"hgvs_p": null,
"transcript": "ENST00000674588.1",
"protein_id": "ENSP00000502802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000674888.1",
"protein_id": "ENSP00000501936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.*348+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000674900.1",
"protein_id": "ENSP00000502662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.*699+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000675171.1",
"protein_id": "ENSP00000501812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000675926.1",
"protein_id": "ENSP00000502354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDE1",
"gene_hgnc_id": 17619,
"hgvs_c": "n.947+6490G>T",
"hgvs_p": null,
"transcript": "ENST00000675951.1",
"protein_id": "ENSP00000502160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"dbsnp": "rs886051730",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.071,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002474.3",
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*641C>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017668.3",
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.947+6490G>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}